List of variants in gene CEP85L reported as uncertain significance for Lissencephaly 10

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)	rs2534124737
NM_001042475.3(CEP85L):c.1262A>C (p.Gln421Pro)	rs2533917788
NM_001042475.3(CEP85L):c.1522A>G (p.Ile508Val)
NM_001042475.3(CEP85L):c.1590+3A>T	rs1401607093
NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe)	rs1554234607
NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)	rs755513985
NM_001042475.3(CEP85L):c.1994T>C (p.Val665Ala)	rs2533753671
NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)	rs2533740355
NM_001042475.3(CEP85L):c.442A>G (p.Lys148Glu)	rs2114998574
NM_001042475.3(CEP85L):c.451del (p.Arg151fs)	rs2534375604
NM_001042475.3(CEP85L):c.452G>A (p.Arg151Gln)	rs141322226
NM_001042475.3(CEP85L):c.516C>T (p.Gly172=)
NM_001042475.3(CEP85L):c.913C>T (p.Arg305Trp)
NM_001178035.2(CEP85L):c.7T>G (p.Trp3Gly)	rs957031499

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.